COQ8A-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency

COQ8A-ataxia is a mitochondrial disease in which a defect in coenzyme Q10 synthesis leads to dysfunction of the respiratory chain. The disease is usually present as childhood-onset progressive ataxia with developmental regression and cerebellar atrophy. However, due to variable phenotype, it may be...

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Detalles Bibliográficos
Autores principales: Paprocka, Justyna, Nowak, Magdalena, Chuchra, Piotr, Śmigiel, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9608955/
https://www.ncbi.nlm.nih.gov/pubmed/36295857
http://dx.doi.org/10.3390/metabo12100955

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9608955/
https://www.ncbi.nlm.nih.gov/pubmed/36295857
http://dx.doi.org/10.3390/metabo12100955

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